PUBLICATION
Identification and Functional Studies of MYO1H for Mandibular Prognathism
- Authors
- Sun, R., Wang, Y., Jin, M., Chen, L., Cao, Y., Chen, F.
- ID
- ZDB-PUB-180710-16
- Date
- 2018
- Source
- Journal of dental research 97(13): 1501-1509 (Journal)
- Registered Authors
- Keywords
- craniofacial anomalies, craniofacial biology/genetics, developmental biology, genetics, orthodontic(s), zebrafish
- MeSH Terms
-
- Animals
- Cartilage/metabolism
- Case-Control Studies
- Cephalometry
- Embryonic Development
- Female
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- In Situ Hybridization
- Male
- Myosin Type I/genetics*
- Polymorphism, Single Nucleotide*
- Prognathism/diagnostic imaging
- Prognathism/genetics*
- Prognathism/metabolism
- Tail/embryology
- Young Adult
- Zebrafish/embryology*
- PubMed
- 29986156 Full text @ J. Dent. Res.
Citation
Sun, R., Wang, Y., Jin, M., Chen, L., Cao, Y., Chen, F. (2018) Identification and Functional Studies of MYO1H for Mandibular Prognathism. Journal of dental research. 97(13):1501-1509.
Abstract
Mandibular prognathism (MP) is regarded as a craniofacial deformity resulting from the combined effects of environmental and genetic factors, while the genetically predetermined component is considered to play an important role to develop MP. Although linkage and association studies for MP have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remain largely undetermined. To address this, we performed targeted sequencing of 396 genes selected from previous studies as well as genes and pathways related with craniofacial development as primary candidates in 199 MP cases and 197 controls and carried out a series of statistical and functional analyses. A nonsynonymous common variant of MYO1H rs3825393, C>T, p.Pro1001Leu, was identified to be significantly associated with MP. During zebrafish embryologic development, expression of MYO1H orthologous genes were detected at mandibular jaw. Furthermore, jaw cartilage defects were observed in zebrafish knockdown models. Collectively, these data demonstrate that MYO1H is required for proper jaw growth and contributes to MP pathogenesis, expanding our knowledge of the genetic basis of MP.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping